Nonsense mediated mRNA decay affects nonsense transcripts levelsand in vitro response to gentamicin and ataluren in X-ALD
1 p.
| Main Authors: | , , , , |
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| Format: | conferenceObject |
| Language: | eng |
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2023
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| Online Access: | http://hdl.handle.net/11086/546656 |
| _version_ | 1801214730419830784 |
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| author | Amorosi, CA Kemp, Stephan Dodelson de Kremer, Raquel Argaraña, Carlos Ramírez Oller, Ana María |
| author_facet | Amorosi, CA Kemp, Stephan Dodelson de Kremer, Raquel Argaraña, Carlos Ramírez Oller, Ana María |
| author_sort | Amorosi, CA |
| collection | Repositorio Digital Universitario |
| description | 1 p. |
| format | conferenceObject |
| id | rdu-unc.546656 |
| institution | Universidad Nacional de Cordoba |
| language | eng |
| publishDate | 2023 |
| record_format | dspace |
| spelling | rdu-unc.5466562023-08-30T14:09:40Z Nonsense mediated mRNA decay affects nonsense transcripts levelsand in vitro response to gentamicin and ataluren in X-ALD Amorosi, CA Kemp, Stephan Dodelson de Kremer, Raquel Argaraña, Carlos Ramírez Oller, Ana María ADRENOLEUCOKODYSTROPHY (X-ALD) ABCD1 GENE 1 p. Fil: Amorosi, CA. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Hospital de Niños de la Santísima Trinidad. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Kemp, Stephan. Universidad de Amsterdan; Netherlands. Fil: : Dodelson de Kremer, Raquel. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Hospital de Niños de la Santísima Trinidad. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Argaraña, Carlos. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro de Investigaciones en Química Biológica de Córdoba; Argentina. Fil: Ramirez Oller, Ana María. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Hospital de Niños de la Santísima Trinidad. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Background: X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene, characterized by increased concentrations of very long-chain fatty acids due to a defect in peroxisomal β-oxidation. Aminoglycosides and PTC124 can readthrough premature termination codons (PTCs), allowing the translation of full length proteins. Response to drugs found only in patients with the higher level of mRNA. Nonsense-mediated mRNA decay (NMD) is a mechanism, which degrades transcripts carrying PTCs and has an important role in response to treatments to promote readthrough. UPF1 RNA helicase are involved in this pathway. Objetives: Prove aminoglycosides and PTC124 in fibroblast cultures from patients with X-ALD. Analyze NMD efficiency in X-ALD fibroblasts. Materials and Methods: Fibroblasts from patients (p.Trp137*, p.Ser290*, p.Arg464*) were treated with different doses of gentamicin and PTC124. Protein expression was analyzed by Western blot. NMD was directly inhibited by using siRNA against UPF1 and indirectly by Cicloheximide. Levels of mRNA were determined by qPCR. * The study was approved by Comité Institucional de Etica para la Investigación Clínica (CIEIS) Polo Hospitalario, Provincia de Córdoba. * This work was supported by Fundación Florencio Fiorini , SECyT-UNC, PICT-FONCYT https://onlinelibrary.wiley.com/doi/epdf/10.1007/s10545-013-9633-z Fil: Amorosi, CA. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Hospital de Niños de la Santísima Trinidad. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Kemp, Stephan. Universidad de Amsterdan; Netherlands. Fil: : Dodelson de Kremer, Raquel. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Hospital de Niños de la Santísima Trinidad. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Fil: Argaraña, Carlos. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro de Investigaciones en Química Biológica de Córdoba; Argentina. Fil: Ramirez Oller, Ana María. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Hospital de Niños de la Santísima Trinidad. Centro de Estudio de las Metabolopatías Congénitas; Argentina. Bioquímica y Biología Molecular (ídem 1.6.3) 2023-03-16T19:27:41Z 2023-03-16T19:27:41Z 2013 conferenceObject http://hdl.handle.net/11086/546656 eng Attribution-NonCommercial-ShareAlike 4.0 International https://creativecommons.org/licenses/by-nc-sa/4.0/ Impreso |
| spellingShingle | ADRENOLEUCOKODYSTROPHY (X-ALD) ABCD1 GENE Amorosi, CA Kemp, Stephan Dodelson de Kremer, Raquel Argaraña, Carlos Ramírez Oller, Ana María Nonsense mediated mRNA decay affects nonsense transcripts levelsand in vitro response to gentamicin and ataluren in X-ALD |
| title | Nonsense mediated mRNA decay affects nonsense transcripts levelsand in vitro response to gentamicin and ataluren in X-ALD |
| title_full | Nonsense mediated mRNA decay affects nonsense transcripts levelsand in vitro response to gentamicin and ataluren in X-ALD |
| title_fullStr | Nonsense mediated mRNA decay affects nonsense transcripts levelsand in vitro response to gentamicin and ataluren in X-ALD |
| title_full_unstemmed | Nonsense mediated mRNA decay affects nonsense transcripts levelsand in vitro response to gentamicin and ataluren in X-ALD |
| title_short | Nonsense mediated mRNA decay affects nonsense transcripts levelsand in vitro response to gentamicin and ataluren in X-ALD |
| title_sort | nonsense mediated mrna decay affects nonsense transcripts levelsand in vitro response to gentamicin and ataluren in x ald |
| topic | ADRENOLEUCOKODYSTROPHY (X-ALD) ABCD1 GENE |
| url | http://hdl.handle.net/11086/546656 |
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